Incidental Mutation 'IGL02080:Cd33'
| ID |
186100 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd33
|
| Ensembl Gene |
ENSMUSG00000004609 |
| Gene Name |
CD33 molecule |
| Synonyms |
Siglec-3, gp67 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43176823-43186679 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 43178274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004728]
[ENSMUST00000039861]
[ENSMUST00000205503]
|
| AlphaFold |
Q63994 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000004728
AA Change: L367P
|
| SMART Domains |
Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: L367P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG
|
26 |
139 |
2.58e-6 |
SMART |
|
IG_like
|
148 |
232 |
2.66e1 |
SMART |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039861
|
| SMART Domains |
Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG
|
26 |
139 |
2.58e-6 |
SMART |
|
IG_like
|
148 |
232 |
2.66e1 |
SMART |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205687
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206371
AA Change: L203P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206977
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,321,159 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
A |
T |
14: 67,067,394 (GRCm39) |
D172E |
probably benign |
Het |
| Fbxw28 |
A |
G |
9: 109,168,641 (GRCm39) |
L17P |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,176 (GRCm39) |
R377M |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,791,031 (GRCm39) |
K237E |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
| Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
| Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
| Snrnp48 |
A |
G |
13: 38,400,466 (GRCm39) |
D191G |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,730,066 (GRCm39) |
|
probably benign |
Het |
| Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
| Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Cd33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Cd33
|
APN |
7 |
43,178,982 (GRCm39) |
intron |
probably benign |
|
|
IGL01025:Cd33
|
APN |
7 |
43,182,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01593:Cd33
|
APN |
7 |
43,179,705 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02519:Cd33
|
APN |
7 |
43,178,153 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02626:Cd33
|
APN |
7 |
43,179,736 (GRCm39) |
splice site |
probably benign |
|
|
1mM(1):Cd33
|
UTSW |
7 |
43,178,217 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0751:Cd33
|
UTSW |
7 |
43,181,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Cd33
|
UTSW |
7 |
43,181,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Cd33
|
UTSW |
7 |
43,181,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Cd33
|
UTSW |
7 |
43,181,722 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1928:Cd33
|
UTSW |
7 |
43,179,303 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2045:Cd33
|
UTSW |
7 |
43,179,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2127:Cd33
|
UTSW |
7 |
43,179,699 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3433:Cd33
|
UTSW |
7 |
43,179,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4760:Cd33
|
UTSW |
7 |
43,178,919 (GRCm39) |
missense |
probably benign |
|
|
R4810:Cd33
|
UTSW |
7 |
43,182,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5387:Cd33
|
UTSW |
7 |
43,181,477 (GRCm39) |
nonsense |
probably null |
|
|
R5611:Cd33
|
UTSW |
7 |
43,181,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5796:Cd33
|
UTSW |
7 |
43,182,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8021:Cd33
|
UTSW |
7 |
43,178,262 (GRCm39) |
missense |
unknown |
|
|
R8193:Cd33
|
UTSW |
7 |
43,181,696 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8993:Cd33
|
UTSW |
7 |
43,182,871 (GRCm39) |
unclassified |
probably benign |
|
|
R9495:Cd33
|
UTSW |
7 |
43,182,150 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9514:Cd33
|
UTSW |
7 |
43,182,150 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9590:Cd33
|
UTSW |
7 |
43,179,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation